keyword
Keywords Cell free fetal DNA in materna...

Cell free fetal DNA in maternal plasma

https://read.qxmd.com/read/38495346/cell%C3%A2-free-fetal-dna-at%C3%A2-11%C3%A2-13%C3%A2-weeks-of-gestation-is-not-altered-in-complicated-pregnancies
#1
JOURNAL ARTICLE
Zoi Koukou, Eleftherios Panteris, Emmanouel Manolakos, Aristeidis Papadopoulos, Ioannis Papoulidis, Konstantinos Relakis, Stavros Sifakis
Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the maternal circulation have been demonstrated in abnormal pregnancies. However, the results are conflicting. The present study aimed to investigate whether cffDNA levels are associated with pregnancy complications. The study group comprised pregnant women who presented with pregnancy complications, such as preterm birth, gestational hypertension, intrauterine growth retardation, gestational diabetes, polyhydramnios, oligohydramnios, vaginal bleeding and placental abruption...
April 2024: Biomedical Reports
https://read.qxmd.com/read/38452118/insights-into-non-informative-results-from-non-invasive-prenatal-screening-through-gestational-age-maternal-bmi-and-age-analyses
#2
JOURNAL ARTICLE
Juraj Gazdarica, Natalia Forgacova, Tomas Sladecek, Marcel Kucharik, Jaroslav Budis, Michaela Hyblova, Martina Sekelska, Andrej Gnip, Gabriel Minarik, Tomas Szemes
The discovery of cell-free fetal DNA fragments in the maternal plasma initiated a novel testing method in prenatal care, called non-invasive prenatal screening (NIPS). One of the limitations of NIPS is the necessity for a sufficient proportion of fetal fragments in the analyzed circulating DNA mixture (fetal fraction), otherwise, the sample is uninterpretable. We present the effect of gestational age, maternal body mass index (BMI), and maternal age on the fetal fraction (FF) of the sample. We retrospectively analyzed data from 5543 pregnant women with a single male fetus who underwent NIPS from which 189 samples received a repeat testing due to an insufficient FF...
2024: PloS One
https://read.qxmd.com/read/38342253/the-signature-of-cancer-methylation-markers-in-maternal-plasma-factors-influencing-the-development-and-application-of-cancer-liquid-biopsy-assay
#3
JOURNAL ARTICLE
Ying Xue, Guodong Zhao, Lishuang Song, Longwei Qiao, Chao Huang, Kai Wang, Ting Wang
BACKGROUND: DNA methylation is highly correlated with cancer and embryo development, and plasma-based methylation markers have been widely used for cancer early detection. However, whether the commonly used cancer methylation markers cause "false positives" in the plasma of pregnant women has not been comprehensively evaluated. METHODS: We conducted a case-control study from February 2021 to March 2023, which included 138 pregnant women and 44 control women. Plasma cell-free DNA (cfDNA) was isolated and bisulfite-converted, and then the methylation levels of eight methylated markers related to gastrointestinal cancer (SEPT9, SDC2, C9orf50, KCNQ5, CLIP4, TFPI2, ELMO1 and ZNF582) and three markers related to lung cancer (SHOX2, RASSF1A and PTGER4) were analyzed...
February 9, 2024: Gene
https://read.qxmd.com/read/38315532/noninvasive-fetal-blood-group-antigen-genotyping
#4
REVIEW
Frederik B Clausen, C Ellen van der Schoot
Noninvasive fetal blood group antigen genotyping serves as a diagnostic tool to predict the risk of hemolytic disease of the fetus and newborn in pregnancies of immunized women. In addition, fetal RHD genotyping is used as an antenatal screening to guide targeted use of immunoglobulin prophylaxis in non-immunized RhD negative, pregnant women. Based on testing of cell-free DNA extracted from maternal plasma, these noninvasive assays demonstrate high performance accuracies. Consequently, noninvasive fetal blood group antigen genotyping has become standard care in transfusion medicine...
January 29, 2024: Blood Transfusion
https://read.qxmd.com/read/38285369/cell-free-dna-and-next-generation-sequencing-for-prenatal-diagnosis
#5
JOURNAL ARTICLE
Klaus Rieneck
Deep sequencing by NGS of targeted amplicons can identify rare genetic variants in a pool of DNA where the vast majority of genomic DNA does not contain the variant. This approach can be used to detect a previously described paternally inherited, fetal variant in cell-free DNA (cfDNA) in maternal plasma. This is useful in cases where risk for the fetus is contingent upon inheritance of a paternal variant that the woman does not have. Both pathogenic and non-pathogenic variants that the woman does not have can be detected...
2024: Methods in Molecular Biology
https://read.qxmd.com/read/37893020/fetal-rhd-screening-in-rh1-negative-pregnant-women-experience-in-switzerland
#6
JOURNAL ARTICLE
Bernd Schimanski, Rahel Kräuchi, Jolanda Stettler, Sofia Lejon Crottet, Christoph Niederhauser, Frederik Banch Clausen, Stefano Fontana, Markus Hodel, Sofia Amylidi-Mohr, Luigi Raio, Claire Abbal, Christine Henny
RH1 incompatibility between mother and fetus can cause hemolytic disease of the fetus and newborn. In Switzerland, fetal RHD genotyping from maternal blood has been recommended from gestational age 18 onwards since the year 2020. This facilitates tailored administration of RH immunoglobulin (RHIG) only to RH1 negative women carrying a RH1 positive fetus. Data from 30 months of noninvasive fetal RHD screening is presented. Cell-free DNA was extracted from 7192 plasma samples using a commercial kit, followed by an in-house qPCR to detect RHD exons 5 and 7, in addition to an amplification control...
September 27, 2023: Biomedicines
https://read.qxmd.com/read/37550335/validation-of-a-non-invasive-prenatal-test-for-fetal-rhd-c-c-e-k-and-fy-a-antigens
#7
JOURNAL ARTICLE
Brian Alford, Brian P Landry, Sarah Hou, Xavier Bower, Anna M Bueno, Drake Chen, Brooke Husic, David E Cantonwine, Thomas F McElrath, Jacqueline A Carozza, Julia Wynn, Jennifer Hoskovec, Kathryn J Gray
We developed and validated a next generation sequencing-(NGS) based NIPT assay using quantitative counting template (QCT) technology to detect RhD, C, c, E, K (Kell), and Fya (Duffy) fetal antigen genotypes from maternal blood samples in the ethnically diverse U.S. population. Quantitative counting template (QCT) technology is utilized to enable quantification and detection of paternally derived fetal antigen alleles in cell-free DNA with high sensitivity and specificity. In an analytical validation, fetal antigen status was determined for 1061 preclinical samples with a sensitivity of 100% (95% CI 99-100%) and specificity of 100% (95% CI 99-100%)...
August 7, 2023: Scientific Reports
https://read.qxmd.com/read/37507082/evaluation-of-noninvasive-prenatal-screening-for-copy-number-variations-among-screening-laboratories
#8
JOURNAL ARTICLE
Ping Tan, Dandan Li, Lu Chang, Jiping Shi, Yanxi Han, Rui Zhang, Jinming Li
OBJECTIVE: To evaluate the current situation of expanded noninvasive prenatal screening (NIPS) for copy number variations (CNVs) in laboratories in China, the National Center of Clinical Laboratories conducted an externalqualityassessment (EQA) program. METHODS: The EQA panel consisted of 12 artificial samples associated with different syndromes, which were mixed with maternal plasma collected from pregnant women and enzyme-digested cell-free DNA (cfDNA) from cell lines with different fetal fractions (FFs) ranging from 5% to 15%...
July 26, 2023: Clinical Biochemistry
https://read.qxmd.com/read/37476414/integrative-profiling-of-extrachromosomal-circular-dna-in-placenta-and-maternal-plasma-provides-insights-into-the-biology-of-fetal-growth-restriction-and-reveals-potential-biomarkers
#9
JOURNAL ARTICLE
Minhuan Lin, Yiqing Chen, Shuting Xia, Zhiming He, Xuegao Yu, Linhuan Huang, Shaobin Lin, Binrun Liang, Ziliang Huang, Shiqiang Mei, Dong Liu, Lingling Zheng, Yanmin Luo
Introduction: Fetal growth restriction (FGR) is a placenta-mediated pregnancy complication that predisposes fetuses to perinatal complications. Maternal plasma cell-free DNA harbors DNA originating from placental trophoblasts, which is promising for the prenatal diagnosis and prediction of pregnancy complications. Extrachromosomal circular DNA (eccDNA) is emerging as an ideal biomarker and target for several diseases. Methods: We utilized eccDNA sequencing and bioinformatic pipeline to investigate the characteristics and associations of eccDNA in placenta and maternal plasma, the role of placental eccDNA in the pathogenesis of FGR, and potential plasma eccDNA biomarkers of FGR...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37452067/association-between-cell-free-dna-fetal-fraction-and-pregnant-character-a-retrospective-cohort-study-of-27-793-maternal-plasmas
#10
JOURNAL ARTICLE
Yaping Hou, Jiexia Yang, Fuli Deng, Fanghua Wang, Haishan Peng, Fangfang Guo, Dongmei Wang, Aihua Yin
To determine the association between cell-free DNA fetal fraction (cffDNA) and various prenatal characters to better guide the clinical application of noninvasive prenatal screening (NIPS), a retrospective cohort study of 27,793 women with singleton pregnancies was conducted. Results indicated that no significant difference on cffDNA between trisomy/sex chromosome aneuploidy (SCA) and non-trisomy groups was found. However, the fetal fraction (FF) in the T18 and T13 subgroups were significantly lower than that in the non-trisomy group, while the FF in the T21 group was significantly higher than the non-trisomy group...
July 14, 2023: Scientific Reports
https://read.qxmd.com/read/37301962/laboratory-performance-of-genome-wide-cfdna-for-copy-number-variants-as-compared-to-prenatal-microarray
#11
JOURNAL ARTICLE
Erica Soster, John Tynan, Clare Gibbons, Wendy Meschino, Jenna Wardrop, Eyad Almasri, Stuart Schwartz, Graham McLennan
BACKGROUND: Noninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in maternal plasma. Professional societies have not yet embraced NIPT for fetal CNVs, citing a need for additional performance data. A clinically available genome-wide cfDNA test screens for fetal aneuploidy and CNVs larger than 7 megabases (Mb). RESULTS: This study reviews 701 pregnancies with "high risk" indications for fetal aneuploidy which underwent both genome-wide cfDNA and prenatal microarray...
June 10, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37247204/research-progress-of-cell-free-fetal-dna-in-non-invasive-prenatal-diagnosis-of-thalassemia
#12
REVIEW
Dewen Liu, Chen Nong, Fengming Lai, Yulian Tang, Taizhong Wang
Thalassemia is a genetic disease that seriously affects the health of the fetus. At present, invasive prenatal diagnosis is the main method of thalassemia screening, but invasive prenatal diagnosis has the risk of fetal abortion. The discovery of cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women provides the possibility for non-invasive prenatal diagnosis (NIPD). Rapid and efficient capture of mutational information on cffDNA in maternal plasma can help prevent the birth of children with thalassemia major...
May 29, 2023: Hemoglobin
https://read.qxmd.com/read/37116742/determination-of-rh-type-and-gender-using-circulating-cell-free-fetal-dna-in-early-pregnancy-of-rh-negative-women-in-turkey
#13
JOURNAL ARTICLE
Tugba Elgun, Yasemin Musteri Oltulu, Asiye Yurttas Gok, Umut Agyuz, Ulkan Kilic
INTRODUCTION: Choosing the right clinical approach for early and reliable diagnosis/screening is becoming more important day by day. The aim of the study was to determine the early RhD type with cff-DNA obtained from maternal plasma, especially in the light of recent developments. In this way, it is aimed to apply Rh Ig only to mothers who are determined to have RhD (+) fetuses and to prevent unnecessary further tests that may possess a risk for RhD (-) fetuses. METHODS: Prediction of fetal gender and RH genotype was performed by using RT-qPCR method...
April 26, 2023: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://read.qxmd.com/read/37114008/maternal-and-fetal-factors-influencing-fetal-fraction-a-retrospective-analysis-of-153-306-pregnant-women-undergoing-noninvasive-prenatal-screening
#14
JOURNAL ARTICLE
Cechuan Deng, Jianlong Liu, Sha Liu, Hongqian Liu, Ting Bai, Xiaosha Jing, Tianyu Xia, Yunyun Liu, Jing Cheng, Xiang Wei, Lingling Xing, Yuan Luo, Quanfang Zhou, Qian Zhu, Shanling Liu
BACKGROUND: Genetic factors are important causes of birth defects. Noninvasive prenatal screening (NIPS) is widely used for prenatal screening of trisomy 21, trisomy 18, and trisomy 13, which are the three most common fetal aneuploidies. Fetal fraction refers to the proportion of cell-free fetal DNA in maternal plasma, which can influence the accuracy of NIPS. Elucidating the factors that influence fetal fraction can provide guidance for the interpretation of NIPS results and genetic counseling...
2023: Frontiers in Pediatrics
https://read.qxmd.com/read/37113995/applying-amplification-refractory-mutation-system-technique-to-detecting-cell-free-fetal-dna-for-single-gene-disorders-purpose
#15
JOURNAL ARTICLE
Yu Tan, Hui Jian, Ranran Zhang, Jing Wang, Cong Zhou, Yuanyuan Xiao, Weibo Liang, Li Wang
Non-invasive prenatal diagnosis for single-gene disorders (NIPD) is still in development and deserves further study. The advent of next-generation sequencing technology significantly improved the detection of multiple mutations for non-invasive prenatal diagnosis for single-gene disorder purposes. However, bespoke amplicon-based NGS assays are costly. In this study, we developed a new strategy for non-invasive prenatal screening for single-gene disorders based on a capillary electrophoresis (CE) platform using an amplification refractory mutation system (ARMS)-PCR technique...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37095202/noninvasive-prenatal-screening-and-maternal-malignancy-role-of-imaging
#16
REVIEW
Priyanka Jha, Liesbeth Lenaerts, Joris Vermeesch, Mary Norton, Frédéric Amant, Phyllis Glanc, Liina Poder
Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnancy, usually between 9 and 12 weeks. Fragments of fetal cell-free deoxyribonucleic acid (DNA) floating in maternal plasma are detected and analyzed by this test to assess for chromosomal aberrations. Similarly, maternal tumor-derived cell-free DNA (ctDNA) released from the tumor cells also circulates in the plasma...
April 25, 2023: Abdominal Radiology
https://read.qxmd.com/read/37091783/integrated-analysis-of-circulating-cell-free-nucleic-acids-for-cancer-genotyping-and-immune-phenotyping-of-tumor-microenvironment
#17
REVIEW
Muskan Chaddha, Hemlata Rai, Ritu Gupta, Deepshi Thakral
The circulating cell-free nucleic acids (ccfNAs) consist of a heterogenous cocktail of both single (ssNA) and double-stranded (dsNA) nucleic acids. These ccfNAs are secreted into the blood circulation by both healthy and malignant cells via various mechanisms including apoptosis, necrosis, and active secretion. The major source of ccfNAs are the cells of hematopoietic system under healthy conditions. These ccfNAs include fragmented circulating cell free DNA (ccfDNA), coding or messenger RNA (mRNA), long non-coding RNA (lncRNA), microRNA (miRNA), and mitochondrial DNA/RNA (mtDNA and mtRNA), that serve as prospective biomarkers in assessment of various clinical conditions...
2023: Frontiers in Genetics
https://read.qxmd.com/read/36980940/a-case-report-of-a-feto-placental-mosaicism-involving-a-segmental-aneuploidy-a-challenge-for-genome-wide-screening-by-non-invasive-prenatal-testing-of-cell-free-dna-in-maternal-plasma
#18
Luigia De Falco, Giuseppina Vitiello, Giovanni Savarese, Teresa Suero, Raffaella Ruggiero, Pasquale Savarese, Monica Ianniello, Nadia Petrillo, Mariasole Bruno, Antonietta Legnante, Francesco Fioravanti Passaretti, Carmela Ardisia, Attilio Di Spiezio Sardo, Antonio Fico
Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In approximately 0.1% of clinical cases, the NIPT result and a subsequent diagnostic karyotype are discordant. Here we report a case of a 32-year-old pregnant patient with a 44.1 Mb duplication on the short arm of chromosome 4 detected by NIPT at 12 weeks' gestation. Amniocentesis was carried out at 18 weeks' gestation, followed by conventional and molecular cytogenetic analysis on cells from the amniotic fluid...
March 7, 2023: Genes
https://read.qxmd.com/read/36968594/positive-cfdna-screening-results-for-22q11-2-deletion-syndrome-clinical-and-laboratory-considerations
#19
JOURNAL ARTICLE
Erica Soster, Brittany Dyr, Jill Rafalko, Eyad Almasri, Phillip Cacheris
Introduction: Non-invasive prenatal screening (NIPS) via cell-free DNA (cfDNA) screens for fetal chromosome disorders using maternal plasma, including 22q11.2 deletion syndrome (22q11.2DS). While it is the commonest microdeletion syndrome and has potential implications for perinatal management, prenatal screening for 22q11.2DS carries some inherent technical, biological, and counseling challenges, including varying deletion sizes/locations, maternal 22q11.2 deletions, confirmatory test choice, and variable phenotype...
2023: Frontiers in Genetics
https://read.qxmd.com/read/36833238/nipat-as-non-invasive-prenatal-paternity-testing-using-a-panel-of-861-snvs
#20
JOURNAL ARTICLE
Riccardo Giannico, Luca Forlani, Valentina Andrioletti, Ettore Cotroneo, Andrea Termine, Carlo Fabrizio, Raffaella Cascella, Luca Salvaderi, Pasquale Linarello, Debora Varrone, Laura Gigante, Emiliano Giardina
In 1997, it was discovered that maternal plasma contains Cell-Free Fetal DNA (cffDNA). cffDNA has been investigated as a source of DNA for non-invasive prenatal testing for fetal pathologies, as well as for non-invasive paternity testing. While the advent of Next Generation Sequencing (NGS) led to the routine use of Non-Invasive Prenatal Screening (NIPT or NIPS), few data are available regarding the reliability and reproducibility of Non-Invasive Prenatal Paternity Testing (NIPPT or NIPAT). Here, we present a non-invasive prenatal paternity test (NIPAT) analyzing 861 Single Nucleotide Variants (SNV) from cffDNA through NGS technology...
January 25, 2023: Genes
keyword
keyword
109027
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.